Genomics England

DARS2

aspartyl-tRNA synthetase 2, mitochondrial

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult onset leukodystrophy R-numbers: R62 Signed-off version 3.23	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Green in Adult onset neurodegenerative disorder R-numbers: R58 Signed-off version 4.41	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 4.40	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION 611105
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 4.26	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
Green in Likely inborn error of metabolism - targeted testing not possible Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 4.78	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Required for mitochondrial gene expression (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 4.114	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.69	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 3.24	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105